Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X; 1 translocation
Background Primary ovarian insufficiency (POI) is defined as a primary ovarian defect
characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial …
characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial …
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the …
Z Peng, R Yang, Q Liu, B Chen, P Long - Molecular Cytogenetics, 2024 - Springer
Background Premature ovarian insufficiency (POI) is a clinical condition characterized by
ovarian dysfunction in women under 40. The etiology of most POI cases remains …
ovarian dysfunction in women under 40. The etiology of most POI cases remains …
Genetics of primary ovarian insufficiency: new developments and opportunities
Y Qin, X Jiao, JL Simpson… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …
Chromosome territories, X; Y translocation and Premature Ovarian Failure: is there a relationship?
S Lissoni, S Baronchelli, N Villa, V Lucchini, E Betri… - Molecular …, 2009 - Springer
Background Premature ovarian failure (POF) is a secondary hypergonadotrophic
amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome …
amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome …
Xq; autosome translocation in POF: Xq27. 2 deletion resulting in haploinsufficiency for SPANX
WS Vitek, K Pagidas, G Gu, JR Pepperell… - Journal of assisted …, 2012 - Springer
Premature ovarian failure (POF), also called primary ovarian insufficiency (POI), is defined
as irregular menses in women younger than 40 years with menopausal-level serum …
as irregular menses in women younger than 40 years with menopausal-level serum …
Premature ovarian insufficiency–the need for a genomic map
B Cloke, J Rymer - Climacteric, 2021 - Taylor & Francis
Premature ovarian insufficiency (POI) is a life-long disorder of heterogeneous etiology,
presenting as adolescent primary amenorrhea in its most severe form, with an overall …
presenting as adolescent primary amenorrhea in its most severe form, with an overall …
[引用][C] Rearrangements of the X chromosome and Turner syndrome
M Crocker - Human genetics, 1992 - Springer
The recent review articles by Therman et al.(1990) and Therman and Susman (1990) raise
the question of a coherent theory to account for ovarian dysgenesis, short stature and other …
the question of a coherent theory to account for ovarian dysgenesis, short stature and other …
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a pathogenic factor for ovarian dysgenesis: a case report
A Cattoni, A Spano, A Tulone, A Boneschi… - Frontiers in …, 2020 - frontiersin.org
Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46, XX patients is
an uncommon finding in the general population, even though several monogenic variants …
an uncommon finding in the general population, even though several monogenic variants …
Premature ovarian failure, absence of pubic and axillary hair with de novo 46, X, t (X; 15)(q24; q26. 3)
C Giacomozzi, F Gullotta, G Federico… - American Journal of …, 2010 - Wiley Online Library
We report on an adolescent girl with premature ovarian failure (POF), de novo unbalanced
translocation X; 15 (q24; q26. 3) with partial Xq24 duplication, and absence of pubic and …
translocation X; 15 (q24; q26. 3) with partial Xq24 duplication, and absence of pubic and …
Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure
Background One of the frequent reasons for unsuccessful conception is premature ovarian
failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional …
failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional …